Newborn Screening Flashcards
when should the Heelprick test/ Guthrie Test be done
after 72 hours
treatment for PKU (phenylketonuria)
put on a diet
if you leave it too late the damage will be irreversible
what is so important about Newborn screening
it gives an opportunity to intervene
what disease did the NHS in England add to the diseases being screened for
sickle cell disease
cystic fibrosis
inherited chronic disease - primarily affects respiratory and gastrointestinal system
autosomal recessive disorder
CF disease clinical symptoms
low BMI - failure to thrive
thick sticky secretions
respiratory function
pancreatic function
nutrition
hospitalizations for CF disease
- 257 individuals required for hospitilisation
- 425 hospitilisation recorded in total for the 257 individuals
what are the major CF complications
liver disease
CF related diabetes
osteoporosis
infection control
- person person transmission
- equipment: single use, cleaning
- OPD clinics: minimise contact
- specialized inpatient units
caring for a young child with CF - daily
- airway clearance
- physio
- pancreatic enzyme supplements
- dietary requirements
- infection control
caring for young child with CF - Routine
- CF clinical visits every 2-3 months
- Annual assessment at Cf specialist centre
- eduacation
caring for a young child with CF - other
- maintenance treatments
- hospital admission
- home IV therapy
- home neubulisers
Irish comparative Outcomes Study (ICOS)
Background
Cohort study established to compare children clinically diagnosed with cystic
fibrosis (CF) and those diagnosed through newborn bloodspot screening (NBS)
ICOS: what did it show
Studies shown improvements in some but not all clinical outcomes
overall ICOS study aims
Compare clinical outcomes
between NBS & clinical
cohorts
Quality of life and carer
burden of parents of children
with CF
Cost comparisons screen-
detected and clinical from
hospital and parental
perspectives
20
ICOS part 2
- HBR funded continuation of the cohorts
- reconsented all those in part 1
- new consent of all children with CF born since 2016
Kalydeco
for the treatment of cystic fibrosis in people age 2 years and older who have at least one copy of G551D mutation
Orkambi
the treatment of CF in patients age 2 years and older homozygous for F508del mutation in their CFTR gene
what is Trikafta
a prescription drug used for the treatment of cystic fibrosis in patients aged 12 years and older who have at least one copy of the F508del mutation
